Canonical Allele Identifier: CA10605214

Gene: EMD

Linked Data

• ClinVar Variation Id: 285707
• ClinVar RCV Id: RCV000303060 ; RCV002519189
• dbSNP Id: rs104894805
• MyVariant Identifiers: chrX:g.153609340C>T (hg19) ; chrX:g.154380980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380980C>T , CM000685.2:g.154380980C>T	GRCh38
NC_000023.10:g.153609340C>T , CM000685.1:g.153609340C>T	GRCh37
NC_000023.9:g.153262534C>T	NCBI36
NG_008677.1:g.11545C>T , LRG_745:g.11545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.548C>T	ENSP00000507245.1:p.Pro183Leu
ENST00000682478.1:n.738C>T
ENST00000683576.1:n.738C>T
ENST00000683627.1:c.548C>T	ENSP00000507533.1:p.Pro183Leu
ENST00000684082.1:c.505C>T	ENSP00000508266.1:n.505C>T
ENST00000684633.1:n.520C>T
ENST00000684678.1:c.544C>T	ENSP00000507059.1:n.544C>T
ENST00000369842.9:c.548C>T MANE Select	ENSP00000358857.4:p.Pro183Leu
ENST00000369835.3:c.443C>T	ENSP00000358850.3:p.Pro148Leu
ENST00000369842.8:c.548C>T	ENSP00000358857.4:p.Pro183Leu
ENST00000428228.5:c.*453C>T	ENSP00000401081.1:n.*453C>T
ENST00000471965.1:n.337C>T
ENST00000486738.5:n.985C>T
ENST00000492448.1:n.531C>T
NM_000117.2:c.548C>T , LRG_745t1:c.548C>T	NP_000108.1:p.Pro183Leu
XM_024452349.1:c.554C>T	XP_024308117.1:p.Pro185Leu
NM_000117.3:c.548C>T MANE Select	NP_000108.1:p.Pro183Leu